Noonan syndrome 6

Noonan syndrome that has material basis in heterozygous mutation in the NRAS gene on chromosome 1p13

Wikidata entity: Q26492794



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q18030215 (NRAS) NRAS
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q18553439 (autosomal dominant disease) autosomal dominant disease
P279 subclass of ... Q1543446 (Noonan syndrome) Noonan syndrome

External Ids
P699Disease Ontology IDDOID:0060584
P4317GARD rare disease ID10701
P4229ICD-10-CMQ87.1
P486MeSH descriptor IDC548084
P5270Mondo IDMONDO_0013186
P492OMIM ID613224
P492OMIM ID613224
P2892UMLS CUIC2750732
P11430UniProt disease IDDI-02558

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